Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRB
Variant:p.N666T
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PDGFRB

NM_002609.4:p.N666T

Associated Papers

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.

Gladkauskas T et al.

Human Mutation, 2025

A computational workflow for analysis of missense mutations in precision oncology.

Khan RT et al.

Journal of Cheminformatics, 2024

High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.

Dermawan JK et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.

Pattisapu P et al.

Clinical Case Reports, 2022

Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome.

Takenouchi T et al.

American Journal of Medical Genetics. Part A, 2021

Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.

Wenger TL et al.

American Journal of Medical Genetics. Part A, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."